A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631776



Internal ID6671901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36217598..36221363hg38UCSC Ensembl
chr13:36791735..36795500hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg383766
hg193766
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14689874, essv14689875, essv14689877, essv14689878, essv14689880, essv14689872, essv14689876, essv14689879, essv14689873
SamplesNA12273, NA12414, HG00315, NA12045, NA12413, HG00118, HG02008, NA06985, HG04200
Known GenesCCDC169-SOHLH2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631776
Frequency
Sample Size2504
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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